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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:pituitary adenoma 5
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Accession:DOID:0112008 term browser browse the term
Definition:A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: PITA5;   pituitary adenoma 5, multiple types
 primary_id: OMIM:617540


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pituitary adenoma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,163,756...4,177,233
Ensembl chr19:4,164,446...4,175,858 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types OMIM
ClinVar		 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      benign neoplasm 2218
        cell type benign neoplasm 1956
          adenoma 717
            pituitary adenoma 25
              pituitary adenoma 5 5
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Nervous System Neoplasms 1622
          Central Nervous System Neoplasms 1431
            central nervous system cancer 781
              brain cancer 765
                supratentorial cancer 492
                  diencephalic neoplasm 40
                    hypothalamic neoplasm 40
                      Pituitary Neoplasms 38
                        pituitary gland benign neoplasm 25
                          pituitary adenoma 25
                            pituitary adenoma 5 5
paths to the root